Affiliations 

  • 1 Institute of Neurogenetics, University of Luebeck, Luebeck, Germany
  • 2 Department of Neurology, University of Free State, Bloemfontein, South Africa
  • 3 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 4 Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
  • 5 Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  • 6 Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia
  • 7 Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany
  • 8 German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
  • 9 Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA
  • 10 Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
  • 11 Division of Neurology, Department of Medicine, and the Mah Pooi Soo and Tan Chin Nam Centre for Parkinson's and Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 12 Genomic Medicine Institute (GMI), Cleveland Clinic, Cleveland, OH, United States
  • 13 DataTecnica, Washington DC, USA
  • 14 Discovery & Translational Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA
  • 15 Department of Clinical Research, Michael J. Fox Foundation for Parkinson's Research, New York City, NY, USA
  • 16 IRCCS Mondino Foundation, Pavia, Italy
  • 17 Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
medRxiv, 2024 Apr 09.
PMID: 38529492 DOI: 10.1101/2024.03.12.24304154

Abstract

Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's (GP2) Monogenic Network took a different approach by targeting PD centers not yet represented in the medical literature. Here, we describe combining both efforts in a "merger project" resulting in a global monogenic PD cohort with build-up of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expression of monogenic PD. This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.